Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP23

ARHGAP23

83 papers

RefSeq Summary

The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form...

Pfam Domains

PDZ_6aa 99–151UCSCPDZ domain
PH_9aa 690–806UCSCPleckstrin homology domain
RhoGAPaa 920–1069UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 23

HGNC Alias Symbol

KIAA1501

Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
4 papers
NM_001199417.2
p.D688N
c.2062G>A
4 papers
NM_001199417.2
p.P838L
c.2513C>T
2 papers
NM_001199417.2
p.L24P
c.71T>C
2 papers
NM_001199417.2
p.R200R
c.600G>A
2 papers
NM_001199417.2
p.R640H
c.1919G>A
2 papers
NM_001199417.2
p.A1293A
c.3879G>A
1 paper
NM_001199417.2
p.K48T
c.143A>C
1 paper
NM_001199417.2
p.R82H
c.245G>A
1 paper
NM_001199417.2
p.S87F
c.260C>T
1 paper
NM_001199417.2
p.V103M
c.307G>A
1 paper
NM_001199417.2
p.R115C
c.343C>T
1 paper
NM_001199417.2
p.V121G
c.362T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."